Varaico: Literature-Extracted Genetic Variants

CNTN5

182 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glyco...

Pfam Domains

Ig_3aa 99–177UCSCImmunoglobulin domain

Ig_3aa 198–273UCSCImmunoglobulin domain

I-setaa 300–386UCSCImmunoglobulin I-set domain

I-setaa 390–475UCSCImmunoglobulin I-set domain

I-setaa 482–568UCSCImmunoglobulin I-set domain

I-setaa 572–667UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

contactin 5

HGNC Alias Symbols

NB-2; hNB-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_014361.4

p.L70R

c.209T>G

Surrounding Variants

2 papers

NM_014361.4

p.W69G

c.205T>G

1 paper

NM_014361.4

p.A72V

c.215C>T

1 paper

NM_014361.4

p.P67S

c.199C>T

1 paper

NM_014361.4

p.Y77Y

c.231T>C

1 paper

NM_014361.4

p.L62delFs

c.185delT

1 paper

NM_014361.4

p.L62fs

c.184_185fs

1 paper

NM_014361.4

p.T61A

c.181A>G

10 papers

NM_014361.4

p.N81S

c.242A>G

1 paper

NM_014361.4

p.H84Q

c.252T>G

1 paper

NM_014361.4

p.S86L

c.257C>T

1 paper

NM_014361.4

p.R53Q

c.158G>A

7 papers

NM_014361.4

p.R53*

c.157C>T